Canonical Allele Identifier: CA2646735753

Gene: AGL

Linked Data

• gnomAD v4: 1-99881075-G-GCATA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99881076_99881079dup , CM000663.2:g.99881076_99881079dup	GRCh38
NC_000001.10:g.100346632_100346635dup , CM000663.1:g.100346632_100346635dup	GRCh37
NC_000001.9:g.100119220_100119223dup	NCBI36
NG_012865.1:g.35993_35996dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1900_1903dup MANE Select	ENSP00000355106.3:p.Arg635ThrfsTer2
ENST00000637337.1:n.2111_2114dup
ENST00000294724.8:c.1900_1903dup	ENSP00000294724.4:p.Arg635ThrfsTer2
ENST00000361302.7:c.1852_1855dup	ENSP00000354971.3:p.Arg619ThrfsTer2
ENST00000361522.4:c.1849_1852dup	ENSP00000354635.4:p.Arg618ThrfsTer2
ENST00000361915.7:c.1900_1903dup	ENSP00000355106.3:p.Arg635ThrfsTer2
ENST00000370161.6:c.1852_1855dup	ENSP00000359180.2:p.Arg619ThrfsTer2
ENST00000370163.7:c.1900_1903dup	ENSP00000359182.3:p.Arg635ThrfsTer2
ENST00000370165.7:c.1900_1903dup	ENSP00000359184.3:p.Arg635ThrfsTer2
NM_000028.2:c.1900_1903dup	NP_000019.2:p.Arg635ThrfsTer2
NM_000642.2:c.1900_1903dup	NP_000633.2:p.Arg635ThrfsTer2
NM_000643.2:c.1900_1903dup	NP_000634.2:p.Arg635ThrfsTer2
NM_000644.2:c.1900_1903dup	NP_000635.2:p.Arg635ThrfsTer2
NM_000645.2:c.1849_1852dup	NP_000636.2:p.Arg618ThrfsTer2
NM_000646.2:c.1852_1855dup	NP_000637.2:p.Arg619ThrfsTer2
XM_005270557.1:c.1900_1903dup	XP_005270614.1:p.Arg635ThrfsTer2
XM_005270557.2:c.1900_1903dup	XP_005270614.1:p.Arg635ThrfsTer2
XM_017000501.2:c.160_163dup	XP_016855990.1:p.Arg55ThrfsTer2
NM_000642.3:c.1900_1903dup MANE Select	NP_000633.2:p.Arg635ThrfsTer2